Down's Screening

Question

I got the results of my blood screen for Down's syndrome, and it was positive. The doctor says that this does not necessarily mean the baby has Down's, but that I'm at extremely high risk. He's also making arrangements for me to go to a specialty hospital for a consult. While I understand that there are worse things that can happen, this is also news that no expectant mother wants to receive. How concerned should I really be about this?

bertlet99 · Answer

Which tests aren't so accurate in women over 35?

spade22 · Answer

Do you know what the name of the test is they ran that gave you these results (some tests are nt reliable in women over 35)?  Did they give you some statistics/numbers with the results eg % likelihood that baby has Down syndrome or a 1 in X chance etc

check3 · Answer

I know getting a high risk diagnosis is scary but I love that you already know how special people with down syndrome are. I had my first baby at 30 & had a prenatal diagnosis of down syndrome (first diagnosed high risk through the quad screen).  He's 5 now & getting ready to be a big brother for the second time.  He has had his share of medical problems (& I know some kids with ds that haven't had any medical problems) but I wouldn't change anything about him.  He is the strongest person I know & has taught me more than I could have ever imagined a kid could teach you in 5 short years. I never knew anyone with ds when I got his diagnosis & everything I found on the Internet was negative. I now know of some great groups on Facebook with lots of people who have been in your shoes. Good luck & stay strong!

fulltimemomma · Answer

That is why I never get those tests. What will be, will be.....special needs children will be extra work. But, the rewards of learning a different side of life and new appreciations will be a blessing in disguise♡♡♡

startingoverat38 · Answer

Right now I'm using my time to learn all I can, and everyone here has been extremely helpful. My doctor did not actually push this test on me, he left it my choice. My doctor also delivered my son eight years ago and, when my boy was in distress, the doctor very calmly recommended that we prep for cecarean. All I knew was that I had not dialated in 18 hours of labor, I had no idea my baby was laying on his imbellical cord. My doctor is not an alarmist, and I appreciate and respect that about him. Anyway, nobody sounds preachy or anything here. I'm thankful for the information that you are all giving me. It gives me plenty of questions to ask the doctor when I see him on Friday. Again, thank you all for your support. It warms my heart to find so many total strangers who have this compassion. 

I would also like to add that I have worked with adults with Down's in that past as well, and that they are as sweet as they can be. I am also involved with Special Olympics, and love seeing all the athletes proudly displaying their medals each year. I don't have any problem with it. My husband and I have many special needs children in each of our families, so we both have open minds.

bakingpreggers · Answer

I had a panorama done.  I have another week before the results come back.  I have no history of any abnormalities not does the father, but my obgyn said I was high risk bc of my age.  Im 34 and a ftm.  I don't feel like that makes me high risk.  My mother had seven children.  The last at 38.  All of us are perfectly healthy.  His emphasis on the test feels like pressure.  I almost wonder if they don't get a kick back on them somehow.

Drcsue · Answer

Harmony gave me a false positive for extra chromosome. I was a blubbering mess for a few weeks until I had an amnio. That came back negative.

bertlet99 · Answer

Oh and as far as a trisomy issue downs or trisomy 21 has various levels of health and cognitive functions but a downs child is precious.  I worked with adult downs syndrome clients and they were awesome.

bertlet99 · Answer

Ok ladies a CVS tests the DNA in the placenta not the babies. Maternit21 and other NIPT tests similar separate placental DNA from our blood. Placental DNA can vary slightly from the actual baby's DNA.  That is why the NIPT is considered a screening not a test. It is NOT diagnostic.  An amniocentesis is a true and accurate test of baby's DNA. 

There are instances of both nuchal translucency scans and Nipt tests showing a high risk of a trisomy or issue and nothing is wrong with the baby. Do your research and weigh options on how to go about after a screening comes back as "positive". 

Sorry is sounds like preaching but I'm currently weighing my options I have a week till I go back to my high risk doc and decide if I am going for an amniocentesis or waiting till the 20 week anatomy scan to see if my daughter will have more markers or health issues that issues that is seen in anatomy trisomy 18 child.

startingoverat38 · Answer

I'm 19 weeks and one day, so this baby is coming no matter what. I see my doctor about this on Friday, which gives me time to educate myself and prepare. I intend to ask for another test, my sister suggested Harmony. Two days ago, I was excited about finding out if we're having a boy or girl. Now I'm preparing for the worst, hoping for the best. Thank you, everybody for your support and positive thoughts.

SUNSHINEHONEY · Answer

I had the same teating...my results for down syndrome were negative but positive for spinabifida...its only a screening and due to level fluctuations there is a huge room for false positives...wait until u have the final results...ill be praying for u!!

Peachy1584 · Answer

I have seen more than a few women have false positives for genetic issues. Hang in there the best you can and do the further testing so it becomes more conclusive one way or another. I wish you and yours the very best x

sew_cute · Answer

My sister just delivered yesterday and all her test  came back high risk.  She did not do the cvs test due to the risk of miscarriage. Her baby was born perfectly normal.  If you plan to have the baby regardless of the results them I wouldn't worry about it and wouldn't risk the amnio test. Plan for the worst and hope for the best.  Good luck! praying all will be  fine

ellarose3 · Answer

How many weeks are you. I would insist on a 13 week ultrasound if you aren't further along. If you really want to know they can do a cvs test that will give you a definite answer. I am waiting on my genetic test right now biting my nails. Just know you can get a false positive result. If mine comes back positive I will be doing a cvs. Stay positive and take one step at a time.

Sassy1041 · Answer

I'm sorry good luck and prayers going your way :)

Nikki148 · Answer

I'm sorry to hear that!!!! U SHLD be concerned did U do the nuchal test yet? To confirm the blood work? U shld definetly go to the specialty hospital to make sure results are definite. Good luck!!!